Hs04978313_cn

• Gene Symbol: DLD
• Assay Reference Genome Location: Chr.7:107900925 on build GRCh38
• Cytoband: 7q31.1

Target Gene Details

• Entrez Gene ID: 1738
• Gene Name: dihydrolipoamide dehydrogenase
• Gene Aliases: DLDD, DLDH, E3, GCSL, LAD, PHE3
• Location: Chr.7:107891107-107921198 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DLD	NM_000108.4			NP_000099.2
	NM_001289750.1			NP_001276679.1
	NM_001289751.1			NP_001276680.1
	NM_001289752.1			NP_001276681.1
	AB209703.1			BAD92940.1
	AK225289.1
	AK225301.1
	AK294146.1
	AK295080.1
	AK297508.1
	AK300077.1
	AK310220.1
	AK312346.1
	BC018648.2			AAH18648.1
	BC018696.2			AAH18696.1
	BI562331.1
	DC354209.1
	J03490.1			AAA59527.1
	J03620.1			AAA35764.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv949927	Chr.7:107890656 - 107915255 on Build GRCh38	Duplication	DLD
nsv831088	Chr.7:107856655 - 108053235 on Build GRCh38	Loss	DLD LAMB1 LAMB4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

pyruvate metabolic process
tricarboxylic acid cycle
2-oxoglutarate metabolic process
mitochondrial electron transport, NADH to ubiquinone
proteolysis
lysine catabolic process
gastrulation
aging
branched-chain amino acid catabolic process
lipoate metabolic process
regulation of acetyl-CoA biosynthetic process from pyruvate
regulation of membrane potential
cell redox homeostasis
glyoxylate metabolic process
sperm capacitation
dihydrolipoamide metabolic process
mitochondrial acetyl-CoA biosynthetic process from pyruvate

Function(s)

dihydrolipoyl dehydrogenase activity
pyruvate dehydrogenase (NAD+) activity
lipoamide binding
flavin adenine dinucleotide binding
NAD binding